Investigation of Autism and Single Nucleotide Polymorphisms of intron in GABRA5 Gene in Chinese Population

摘要

Autism is a complex genetic neuropsychiatric condition characterized by deficits in social interaction and language and patterns of repetitive or stereotyped behaviors and restricted interests. Previous studies indicated association of single nucleotide polymorphisms within a GABA receptor subunit gene within Caucasian autism patients. In this paper, we genotyped two SNPs (hCV252720, hCV27725; http://www.ncbi.nlm.nih.gov/SNP/) in the intronic regions within the GABRA5 gene in Chinese populations. Case-control study and haplotype analysis were used to analyze the association of GABRA5 gene with autism. Result indicated that SNP hCV252720 had a significant genotype association with autism, and C allele of hCV252720 was prone to transmit. It can be inferred that polymorphisms in introns are important regulatory factors for autism.GABRA5; SNP; haplotype; autism; association